Despite significant advances in basic research, the treatment of degenerative diseases of
the nervous system remains one of the greatest challenges for translational medicine. The …

Objective To evaluate plasma phosphorylated neurofilament heavy chain (pNF‐H) as a
biomarker in spinal muscular atrophy (SMA). Methods Levels of pNF‐H were measured …

Neuro-muscular disorders include a variety of diseases induced by genetic mutations
resulting in muscle weakness and waste, swallowing and breathing difficulties. However …

Spinal muscular atrophy (SMA) is a neurodegenerative disorder that affects motor neurons,
primarily in young children. SMA is caused by mutations in the Survival Motor Neuron 1 …

Spinal muscular atrophy (SMA) is a devastating genetic neuromuscular disease. Diffuse
neuropathology has been reported in SMA patients and mouse models, however, functional …

Spinal motoneuron dysfunction and loss are pathological hallmarks of the neuromuscular
disease spinal muscular atrophy (SMA). Changes in motoneuron physiological function …

A pathological hallmark of spinal muscular atrophy (SMA) is severe motor neuron (MN) loss,
which results in muscle weakness and often infantile or childhood mortality. Although it is …